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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-24060922-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=24060922&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 24060922,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000380986.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ala65Gly",
"transcript": "NM_004116.5",
"protein_id": "NP_004107.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 108,
"cds_start": 194,
"cds_end": null,
"cds_length": 327,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 925,
"mane_select": "ENST00000380986.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ala65Gly",
"transcript": "ENST00000380986.9",
"protein_id": "ENSP00000370373.4",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 108,
"cds_start": 194,
"cds_end": null,
"cds_length": 327,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 925,
"mane_select": "NM_004116.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ala65Gly",
"transcript": "ENST00000380991.8",
"protein_id": "ENSP00000370379.4",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 80,
"cds_start": 194,
"cds_end": null,
"cds_length": 243,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 1010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "n.*177C>G",
"hgvs_p": null,
"transcript": "ENST00000438630.5",
"protein_id": "ENSP00000416349.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "n.*177C>G",
"hgvs_p": null,
"transcript": "ENST00000438630.5",
"protein_id": "ENSP00000416349.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ala65Gly",
"transcript": "NM_054033.4",
"protein_id": "NP_473374.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 80,
"cds_start": 194,
"cds_end": null,
"cds_length": 243,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Ala36Gly",
"transcript": "NM_001322963.2",
"protein_id": "NP_001309892.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 79,
"cds_start": 107,
"cds_end": null,
"cds_length": 240,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Ala36Gly",
"transcript": "NM_001322964.2",
"protein_id": "NP_001309893.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 79,
"cds_start": 107,
"cds_end": null,
"cds_length": 240,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Ala36Gly",
"transcript": "ENST00000452109.1",
"protein_id": "ENSP00000406593.1",
"transcript_support_level": 3,
"aa_start": 36,
"aa_end": null,
"aa_length": 79,
"cds_start": 107,
"cds_end": null,
"cds_length": 240,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Ala36Gly",
"transcript": "XM_017003593.3",
"protein_id": "XP_016859082.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 79,
"cds_start": 107,
"cds_end": null,
"cds_length": 240,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 1082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Ala36Gly",
"transcript": "XM_017003594.2",
"protein_id": "XP_016859083.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 79,
"cds_start": 107,
"cds_end": null,
"cds_length": 240,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Ala36Gly",
"transcript": "XM_017003595.3",
"protein_id": "XP_016859084.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 79,
"cds_start": 107,
"cds_end": null,
"cds_length": 240,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Ala36Gly",
"transcript": "XM_017003596.3",
"protein_id": "XP_016859085.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 79,
"cds_start": 107,
"cds_end": null,
"cds_length": 240,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "n.*109C>G",
"hgvs_p": null,
"transcript": "ENST00000421839.1",
"protein_id": "ENSP00000397444.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2B",
"gene_hgnc_id": 37207,
"hgvs_c": "n.*232C>G",
"hgvs_p": null,
"transcript": "ENST00000453731.1",
"protein_id": "ENSP00000390490.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "n.959C>G",
"hgvs_p": null,
"transcript": "ENST00000496149.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "n.460C>G",
"hgvs_p": null,
"transcript": "NR_136536.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "n.392C>G",
"hgvs_p": null,
"transcript": "NR_136538.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "n.190C>G",
"hgvs_p": null,
"transcript": "NR_136539.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"hgvs_c": "n.*109C>G",
"hgvs_p": null,
"transcript": "ENST00000421839.1",
"protein_id": "ENSP00000397444.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD2B",
"gene_hgnc_id": 37207,
"hgvs_c": "n.*232C>G",
"hgvs_p": null,
"transcript": "ENST00000453731.1",
"protein_id": "ENSP00000390490.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FKBP1B",
"gene_hgnc_id": 3712,
"dbsnp": "rs753812249",
"frequency_reference_population": 0.000009589461,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000958946,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36552050709724426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.117,
"revel_prediction": "Benign",
"alphamissense_score": 0.1269,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.023,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000380986.9",
"gene_symbol": "FKBP1B",
"hgnc_id": 3712,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ala65Gly"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000453731.1",
"gene_symbol": "MFSD2B",
"hgnc_id": 37207,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*232C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}